Mutations Associated With Cancer Found In Endometriosis

Mutations Associated With Cancer Found In Endometriosis

New Study Suggests Endometriosis Tissue Contains Cancer-Driver Mutations

A new study out in the New England Journal of Medicine is linking endometriosis with cancer. Findings from the study have identified cancer-related mutations in tissue taken from patients with deep infiltrating endometriosis (DIE), a non-cancerous tissue.

Mutations Associated With Cancer Found In Endometriosis
Original Article which Dr.Seckin participate

The joint study between The Johns Hopkins University, Maryland and the University of British Columbia, analyzed DIE lesions from a combined 27 patients from both New York City and Japan. Researchers sequenced the exome of healthy tissue and endometriosis tissue and found in 19 out of 24 samples one or more mutations in the endometriosis tissue that were not present in the corresponding normal tissue of the same patients. Researchers concluded that DIE lesions, which virtually have no risk of malignant transformation, do contain somatic cancer driver mutations, which are in fact operator for cell growth and survival. In the past, researchers only knew driver mutations in cancer tissues. This study is the first time that driver mutations have been found in non-cancerous tissue and the implication is there that these mutations may, in fact, be responsible for invasiveness, dissemination, and recurrence of endometriosis, thinking the low probability of the DIE to turn into cancer.

“The study proved what I have long suspected,” said Dr. Tamer Seckin founder of The Endometriosis Foundation of America (EFA). “This is the first time that it has been demonstrated in a benign tissue that these cancer driver genes co-exist. In the past, we only identified mutations in cancer tissue. This study is the first time we see mutation sites in non-cancerous tissue.”

Seckin, a surgeon at Lenox Hill Hospital in New York City who provided 17 of the 24 tissue samples and one of the designer of the study, said that he had wanted to see a study like this since 2004 when he first presented in Cape Town South Africa his findings on ovarian cancer and what he thought were its association not only with endometriosis but also the relation with its invasive features.

“It is well known that there is a direct correlation between some types of ovarian cancer and endometriosis. However, this study enforces my theory that not all the endometriosis subtypes are the same and there are some specific cancer-related features in DIE which make them invasive, disseminating and recur, like cancers, but there is still more research necessary before we can draw an absolute conclusion,” said Seckin.

Seckin says the study will open doors to further studies to confirm similar or more definitive findings and that there may be markers that are unique to cancer-developing attributes to some endometriosis cases.

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    I am a physician who suffered from deep infiltrative endometriosis. I needed laparoscopic surgery, so I went to see my former gynaecologist and he performed the procedure (a surgery which he supposedly does hundreds of times a year) last November. I had severe pain again when I had my period in January and was advised to go on taking a…

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    After years of excessively painful periods, a serious loss of quality of life, and a series of uninformed and uninterested doctors, Dr. Seckin and Dr. Goldstein turned my life around. I was told I woke up from my surgery almost a year ago with a smile on my face, and I haven't stopped since. Before I heard of Dr. Seckin,…

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    Dr Seckin and his team gave me back my life! Tomorrow will be 1 month since my surgery and I feel great. Dr. Seckin, Dr Liu, and Dr Goldstein are not only beyond words talented and amazing Doctors, but they are also genuinely wonderful and caring people. I cannot say enough great things about Holly, Asiye and Kim as well.…

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    Dr. Seckin and his staff spared me from years and years of heavy periods and unbearable endometriosis pain. After having surgery with him (my first) I can now function like a regular human. No more eating NSAIDs like candy and calling out sick from work. Thank you, Dr. Seckin!

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    I underwent surgery with Dr. Seckin in 2017 and have felt like a new woman ever since. If you have, or suspect you have endometriosis, Dr. Seckin and his compassionate team of surgeons and staff are a must-see.